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KBTBD8 kelch repeat and BTB domain containing 8 [ Homo sapiens (human) ]

Gene ID: 84541, updated on 5-Mar-2024

Summary

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Official Symbol
KBTBD8provided by HGNC
Official Full Name
kelch repeat and BTB domain containing 8provided by HGNC
Primary source
HGNC:HGNC:30691
See related
Ensembl:ENSG00000163376 MIM:616607; AllianceGenome:HGNC:30691
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TAKRP; TA-KRP
Summary
Involved in neural crest cell development; neural crest formation; and protein monoubiquitination. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lymph node (RPKM 10.1), testis (RPKM 4.7) and 14 other tissues See more
Orthologs
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Genomic context

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Location:
3p14.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (66998307..67011210)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (67043303..67056206)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (67048731..67061634)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377143 Neighboring gene uncharacterized LOC105377144 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:66848705-66849255 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:66893104-66893642 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:66893643-66894179 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:67038375-67039124 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:67039125-67039874 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr3:67039875-67040624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20044 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20045 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20047 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14510 Neighboring gene uncharacterized LOC124909391 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:67133372-67134571 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14511 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:67177475-67177976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:67192469-67192970 Neighboring gene uncharacterized LOC124909392

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Downregulation of the ubiquitin ligase KBTBD8 prevented epithelial ovarian cancer progression. Du L, et al. Mol Med, 2020 Oct 27. PMID 33109073, Free PMC Article
  2. Multisite dependency of an E3 ligase controls monoubiquitylation-dependent cell fate decisions. Werner A, et al. Elife, 2018 Jul 12. PMID 29999490, Free PMC Article
  3. Dimerization quality control ensures neuronal development and survival. Mena EL, et al. Science, 2018 Oct 12. PMID 30190310
  4. Cell-fate determination by ubiquitin-dependent regulation of translation. Werner A, et al. Nature, 2015 Sep 24. PMID 26399832, Free PMC Article
  5. Identification of 15 loci influencing height in a Korean population. Kim JJ, et al. J Hum Genet, 2010 Jan. PMID 19893584

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ57592, KIAA1842

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in neural crest cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in neural crest formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein monoubiquitination IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of translation IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of Cul3-RING ubiquitin ligase complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi apparatus IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in spindle IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
kelch repeat and BTB domain-containing protein 8
Names
T-cell activation kelch repeat protein
kelch repeat and BTB (POZ) domain containing 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_032505.3 → NP_115894.2  kelch repeat and BTB domain-containing protein 8

    See identical proteins and their annotated locations for NP_115894.2

    Status: VALIDATED

    Source sequence(s)
    AF385438, AK096640, DA246470, DB065239
    Consensus CDS
    CCDS2906.2
    UniProtKB/Swiss-Prot
    B4DTW6, Q8NFY9, Q96JI5
    Related
    ENSP00000401878.2, ENST00000417314.2
    Conserved Domains (6) summary
    smart00612
    Location:337 → 388
    Kelch; Kelch domain
    PHA03098
    Location:50 → 516
    PHA03098; kelch-like protein; Provisional
    sd00038
    Location:330 → 376
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:39 → 144
    BTB; BTB/POZ domain
    pfam01344
    Location:379 → 428
    Kelch_1; Kelch motif
    pfam07707
    Location:153 → 250
    BACK; BTB And C-terminal Kelch

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    66998307..67011210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264771.4 → XP_005264828.1  kelch repeat and BTB domain-containing protein 8 isoform X1

    Conserved Domains (5) summary
    smart00612
    Location:260 → 311
    Kelch; Kelch domain
    sd00038
    Location:253 → 299
    Kelch; KELCH repeat [structural motif]
    pfam00651
    Location:1 → 67
    BTB; BTB/POZ domain
    pfam01344
    Location:302 → 351
    Kelch_1; Kelch motif
    pfam07707
    Location:76 → 173
    BACK; BTB And C-terminal Kelch

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    67043303..67056206
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348093.1 → XP_054204068.1  kelch repeat and BTB domain-containing protein 8 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NFY9.2 GenPept UniProtKB/Swiss-Prot:Q8NFY9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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